Literature DB >> 730182

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

F Serville, C Junien, J C Kaplan, M Gachet, J Cadoux, A Broustet.   

Abstract

An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.

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Year:  1978        PMID： 730182     DOI： 10.1007/bf00277574

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  Regional mapping of TPI, LDH-B, and Pep-B on chromosome 12 of man.

Authors:  A P Jongsma; A Hagemeijer; P Meera Khan
Journal:  Cytogenet Cell Genet       Date:  1975

3.  Syndrome +12p. Case report and review.

Authors:  R Tenconi; E Piovan; A Preto; R Magnabosco; C Baccichetti
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

4.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

5.  Proceedings: Evidence for synteny between the human loci for triose phosphate isomerase, lactate dehydrogenase-B, and peptidase-B and the regional mapping of these loci on chromosome 12.

Authors:  A P Jongsma; W R Los; A Hagemeijer
Journal:  Cytogenet Cell Genet       Date:  1974

6.  A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.

Authors:  H Nielsen; M Vetner; V Holm; S Askjaer; E Reske-Nielsen
Journal:  Hum Genet       Date:  1977-03-14       Impact factor: 4.132

7.  Assignment of the DIA1 locus to chromosome 22.

Authors:  R A Fisher; S Povey; M Bobrow; E Solomon; Y Boyd; B Carritt
Journal:  Ann Hum Genet       Date:  1977-10       Impact factor: 1.670

8.  Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.

Authors:  J B Bijlsma; H F de France; L M Bleeker-Wagemakers; P F Dijkstra
Journal:  Hum Genet       Date:  1978-01-19       Impact factor: 4.132

9.  Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.

Authors:  I L Hansteen; L Schirmer; S Hestetun
Journal:  Clin Genet       Date:  1978-04       Impact factor: 4.438

10.  12pter to 12p12.2: possible assignment of human triose phosphate isomerase.

Authors:  M O Rethoré; J C Kaplan; C Junien; J Lejeune
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132
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  7 in total

1.  Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

Authors:  M Habedank; G Trost-Brinkhues
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

2.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

Authors:  S Stengel-Rutkowski; A Albert; J D Murken; K Zahn-Messow; A Rodewald; M Zankl; H Saule; J Stene
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

4.  Various rat adult tissues express only one major mRNA species from the glyceraldehyde-3-phosphate-dehydrogenase multigenic family.

Authors:  P Fort; L Marty; M Piechaczyk; S el Sabrouty; C Dani; P Jeanteur; J M Blanchard
Journal:  Nucleic Acids Res       Date:  1985-03-11       Impact factor: 16.971

5.  Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p.

Authors:  C Junien; J C Kaplan; F Serville; G Lenoir
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

6.  Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.

Authors:  R Rosa; M O Prehu; M C Calvin; J Badoual; D Alix; R Girod
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Post-transcriptional regulation of glyceraldehyde-3-phosphate-dehydrogenase gene expression in rat tissues.

Authors:  M Piechaczyk; J M Blanchard; L Marty; C Dani; F Panabieres; S El Sabouty; P Fort; P Jeanteur
Journal:  Nucleic Acids Res       Date:  1984-09-25       Impact factor: 16.971
  7 in total

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